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Ataxia with fasciculations

MedGen UID:
400052
Concept ID:
C1862440
Disease or Syndrome
Synonym: Ataxia with Fasciculations
 
Monarch Initiative: MONDO:0007166
OMIM®: 108700

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.

Professional guidelines

PubMed

Mei XW, Burchardt J, Ranger TA, McDermott CJ, Radunovic A, Coupland C, Hippisley-Cox J
BMJ Open 2022 Jun 28;12(6):e058383. doi: 10.1136/bmjopen-2021-058383. PMID: 35768081Free PMC Article
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T
Clinics (Sao Paulo) 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. PMID: 22666787Free PMC Article
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907

Recent clinical studies

Etiology

Mei XW, Burchardt J, Ranger TA, McDermott CJ, Radunovic A, Coupland C, Hippisley-Cox J
BMJ Open 2022 Jun 28;12(6):e058383. doi: 10.1136/bmjopen-2021-058383. PMID: 35768081Free PMC Article
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J
J Neurol 2019 May;266(5):1079-1090. Epub 2019 Mar 5 doi: 10.1007/s00415-019-09235-x. PMID: 30834979
Rezende Filho FM, Vale TC, Pedroso JL, Braga-Neto P, Barsottini OG
J Neurol Sci 2019 Feb 15;397:138-140. Epub 2019 Jan 2 doi: 10.1016/j.jns.2019.01.001. PMID: 30616057
Del Brutto OH
Handb Clin Neurol 2013;114:349-68. doi: 10.1016/B978-0-444-53490-3.00028-5. PMID: 23829924
Vanhaesebrouck AE, Bhatti SF, Franklin RJ, Van Ham L
Vet J 2013 Aug;197(2):153-62. Epub 2013 Apr 11 doi: 10.1016/j.tvjl.2013.03.002. PMID: 23583699

Diagnosis

Mei XW, Burchardt J, Ranger TA, McDermott CJ, Radunovic A, Coupland C, Hippisley-Cox J
BMJ Open 2022 Jun 28;12(6):e058383. doi: 10.1136/bmjopen-2021-058383. PMID: 35768081Free PMC Article
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J
J Neurol 2019 May;266(5):1079-1090. Epub 2019 Mar 5 doi: 10.1007/s00415-019-09235-x. PMID: 30834979
Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Vanhaesebrouck AE, Bhatti SF, Franklin RJ, Van Ham L
Vet J 2013 Aug;197(2):153-62. Epub 2013 Apr 11 doi: 10.1016/j.tvjl.2013.03.002. PMID: 23583699
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T
Clinics (Sao Paulo) 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. PMID: 22666787Free PMC Article

Therapy

Bradberry SM, Proudfoot AT, Vale JA
Toxicol Rev 2004;23(2):65-73. doi: 10.2165/00139709-200423020-00001. PMID: 15578861
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907
Martinello F, Fardin P, Ottina M, Ricchieri GL, Koenig M, Cavalier L, Trevisan CP
J Neurol Sci 1998 Apr 1;156(2):177-9. doi: 10.1016/s0022-510x(98)00038-0. PMID: 9588854
Lubbers WJ, Brunt ER, Scheffer H, Litt M, Stulp R, Browne DL, van Weerden TW
J Neurol Neurosurg Psychiatry 1995 Oct;59(4):400-5. doi: 10.1136/jnnp.59.4.400. PMID: 7561920Free PMC Article
Muir WW, Sams RA, Huffman RH, Noonan JS
Am J Vet Res 1982 Oct;43(10):1756-62. PMID: 7149375

Prognosis

Wenninger S
J Neuromuscul Dis 2017;4(4):337-339. doi: 10.3233/JND-170259. PMID: 29103046
Figura M, Gaweł M, Kolasa A, Janik P
Neurol Neurochir Pol 2014;48(5):368-72. Epub 2014 Sep 6 doi: 10.1016/j.pjnns.2014.08.003. PMID: 25440017
Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907
Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM
Am J Hum Genet 1997 Apr;60(4):842-50. PMID: 9106530Free PMC Article

Clinical prediction guides

Fehér OE, Fehérvári P, Tolnai CH, Forgách P, Malik P, Jerzsele Á, Wagenhoffer Z, Szenci O, Korbacska-Kutasi O
Viruses 2022 Nov 18;14(11) doi: 10.3390/v14112551. PMID: 36423160Free PMC Article
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Boonkongchuen P, Pongpakdee S, Jindahra P, Papsing C, Peerapatmongkol P, Wetchaphanphesat S, Paiboonpol S, Dejthevaporn C, Tanprawate S, Nudsasarn A, Jariengprasert C, Muntham D, Ingsathit A, Pulkes T
BMC Neurol 2014 Apr 5;14:75. doi: 10.1186/1471-2377-14-75. PMID: 24708620Free PMC Article
Ikeda Y, Ohta Y, Kobayashi H, Okamoto M, Takamatsu K, Ota T, Manabe Y, Okamoto K, Koizumi A, Abe K
Neurology 2012 Jul 24;79(4):333-41. Epub 2012 Jun 27 doi: 10.1212/WNL.0b013e318260436f. PMID: 22744658
Bradberry SM, Proudfoot AT, Vale JA
Toxicol Rev 2004;23(2):65-73. doi: 10.2165/00139709-200423020-00001. PMID: 15578861

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